A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3056958



Internal ID21188826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109106907..109106907hg38UCSC Ensembl
chr12:109544712..109544712hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14024603
SamplesNA12878
Known GenesUNG
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nsv3056958
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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